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craniosynostosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0015469

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. [ Orphanet:1531 ]

Synonyms: premature closure of cranial sutures craniosynostosis syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:Q75.0 (Orphanet:1531/specific)
  • GARD:6209 (Orphanet:1531)
  • MedDRA:10049889 (Orphanet:1531/e)
  • MESH:D003398 (Orphanet:1531/e)
  • MedDRA:10048907 (Orphanet:1531/e)
  • Orphanet:1531 (MONDO:equivalentTo)
  • OMIMPS:123100 (MONDO:equivalentTo)
  • UMLS:C0010278 (Orphanet:1531/e)
  • NCIT:C84655 (MONDO:equivalentTo)
  • DOID:2340 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

closeMatch

http://identifiers.org/meddra/10048907

http://identifiers.org/meddra/10049889

exactMatch

http://identifiers.org/mesh/D003398

http://purl.bioontology.org/ontology/ICD10CM/Q75.0

https://omim.org/phenotypicSeries/PS123100

http://purl.obolibrary.org/obo/DOID_2340

http://purl.obolibrary.org/obo/NCIT_C84655

http://linkedlifedata.com/resource/umls/id/C0010278

http://www.orpha.net/ORDO/Orphanet_1531

id

MONDO:0015469

Term relations